Canonical Allele Identifier: CA382619602
Gene: SDHD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094966T>G , CM000673.2:g.112094966T>G GRCh38
NC_000011.9:g.111965690T>G , CM000673.1:g.111965690T>G GRCh37
NC_000011.8:g.111470900T>G NCBI36
NG_012337.2:g.13120T>G
NG_012337.3:g.13120T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.*215T>G ENSP00000432946.2:n.*215T>G
ENST00000534010.2:c.314+5955T>G ENSP00000433202.2:n.314+5955T>G
ENST00000375549.8:c.476T>G MANE Select ENSP00000364699.3:p.Leu159Arg
ENST00000528021.6:c.314+5955T>G ENSP00000432465.1:n.314+5955T>G
ENST00000375549.7:c.476T>G ENSP00000364699.3:p.Leu159Arg
ENST00000525291.5:c.359T>G ENSP00000436669.1:p.Leu120Arg
ENST00000525987.5:n.319+5955T>G
ENST00000526592.5:c.*174T>G ENSP00000432005.1:n.*174T>G
ENST00000528021.5:c.314+5955T>G ENSP00000432465.1:n.314+5955T>G
ENST00000528048.5:c.*73T>G ENSP00000436217.1:n.*73T>G
ENST00000528182.5:c.*73T>G ENSP00000435475.1:n.*73T>G
ENST00000530923.5:c.520T>G
ENST00000531744.5:c.314+5955T>G ENSP00000456957.1:n.314+5955T>G
ENST00000532699.1:c.314+5955T>G ENSP00000456434.1:n.314+5955T>G
ENST00000534010.1:c.145+5955T>G
NM_001276503.1:c.*73T>G NP_001263432.1:n.*73T>G
NM_001276504.1:c.359T>G NP_001263433.1:p.Leu120Arg
NM_001276506.1:c.*174T>G NP_001263435.1:n.*174T>G
NM_003002.3:c.476T>G NP_002993.1:p.Leu159Arg
NR_077060.1:n.614T>G
NM_003002.4:c.476T>G MANE Select NP_002993.1:p.Leu159Arg
NM_001276503.2:c.*73T>G NP_001263432.1:n.*73T>G
NM_001276504.2:c.359T>G NP_001263433.1:p.Leu120Arg
NM_001276506.2:c.*174T>G NP_001263435.1:n.*174T>G
NR_077060.2:n.565T>G